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Updated: Mar 17, 2026

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Split-hand/feet malformation: A rare syndrome.

Bahubali D Gane1, P Natarajan1

  • 1Department of Paediatrics, Sri Venkateshwara Medical College, Puducherry, India.

Journal of Family Medicine and Primary Care
|July 26, 2016
PubMed
Summary

Split-hand/split-foot malformation (SHFM) is a genetic disorder affecting limb development. This case report details a 10-year-old boy with SHFM, highlighting the importance of understanding its genetic basis.

Keywords:
Autosomal dominantectodermal ridgeectrodactylysplit-hand/foot malformation

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Split-hand/split-foot malformation (SHFM) is an inherited limb defect affecting central ray development.
  • It typically presents as a median cleft in hands/feet with underdeveloped bones.
  • The condition arises from disrupted signaling crucial for limb bud growth.

Observation:

  • A case study of a 10-year-old boy with SHFM is presented.
  • The patient exhibits characteristic hand and foot malformations.
  • Clinical presentation aligns with known SHFM phenotypes.

Findings:

  • SHFM is primarily an autosomal dominant trait with incomplete penetrance.
  • Pathogenesis involves impaired signaling from the median apical ectodermal ridge.
  • This leads to arrested proliferation and differentiation in the progress zone, causing central ray defects.

Implications:

  • Understanding SHFM pathogenesis aids in genetic counseling and diagnosis.
  • Further research can explore targeted therapeutic strategies for limb malformations.
  • This case contributes to the clinical understanding of SHFM variability.